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BACKGROUND: Helsmoortel-Van der Aa syndrome was officially documented in 2014. Helsmoortel-Van der Aa syndrome is an extremely rare complex neurodegenerative disorder characterized by reduced intellectual capacity, motor dysfunction, facial dysmorphism, impaired development, and an increased predisposition to autism spectrum disorder. In addition, many patients also present with neuropsychiatric disorders, including attention deficit hyperactivity disorder, anxiety disorders, and various behavioral abnormalities. Helsmoortel-Van der Aa syndrome is challenging to identify solely on the basis of symptoms, and genetic investigations, including exome sequencing, may facilitate diagnosis. CASE PRESENTATION: We report a case of 13-year-old Saudi patient who presented with dysmorphic features as illustrated in Fig. 1, severe mental retardation, autism spectrum disorder, and attention deficit hyperactivity disorder. Initial genetic testing was unremarkable; thus, a clinical exome analysis was performed to identify the genetic basis of the condition. CONCLUSIONS: Clinical exome analysis indicated an autosomal dominant Helsmoortel-Van der Aa syndrome with a likely pathogenic de novo variant within the activity-dependent neuroprotector homeobox (ADNP) gene not previously reported in Helsmoortel-Van der Aa syndrome. The patient had a right-sided solitary kidney and polycystic ovaries, conditions that were not previously associated with HVDAS.
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Trastorno del Espectro Autista , Discapacidad Intelectual , Síndrome del Ovario Poliquístico , Riñón Único , Humanos , Femenino , Adolescente , Trastorno del Espectro Autista/genética , Síndrome del Ovario Poliquístico/complicaciones , Síndrome del Ovario Poliquístico/genética , Síndrome del Ovario Poliquístico/diagnóstico , Discapacidad Intelectual/genética , Riñón Único/complicaciones , Secuenciación del Exoma , Proteínas del Tejido Nervioso/genética , Proteínas de Homeodominio/genética , Cardiopatías , Facies , Trastornos del NeurodesarrolloAsunto(s)
Riñón Único , Vagina , Humanos , Femenino , Vagina/anomalías , Riñón Único/diagnóstico por imagen , Riñón Único/complicaciones , AdultoRESUMEN
The consequences of partial nephrectomy (PN) compared to radical nephrectomy (RN) are less documented in patients with pre-existing chronic kidney disease (CKD) or with solitary kidney (SK). We assessed renal outcomes, and their determinants, after PN or RN in a retrospective cohort of patients with moderate-to-severe CKD (RN-CKD and PN-CKD) or SK (PN-SK). All surgical procedures conducted between 2013 and 2018 in our institution in patients with pre-operative estimated glomerular filtration rate (eGFR)<60 mL/min/1.73m2 or with SK were included. The primary outcome was a composite criterion including CKD progression or major adverse cardio-vascular events (MACE) or death, assessed one year after surgery. Predictors of the primary outcome were determined using multivariate analyses. A total of 173 procedures were included (67 RN, and 106 PN including 27 SK patients). Patients undergoing RN were older, with larger tumors. Preoperative eGFR was not significantly different between the groups. One year after surgery, PN-CKD was associated with lower rate of the primary outcome compared to RN-CKD (43% vs 71% p = 0.007). In multivariate analysis, independent risk factors for the primary outcome were postoperative AKI (stage 1 to stage 3 ranging from OR = 8.68, 95% CI 3.23-23.33, to OR = 28.87, 95% CI 4.77-167.61), larger tumor size (OR = 1.21 per cm, 95% CI 1.02-1.45), while preoperative eGFR, age, sex, diabetes mellitus, and hypertension were not. Postoperative AKI after PN or RN was the major independent determinant of worse outcomes (CKD progression, MACE, or death) one year after surgery.
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Tasa de Filtración Glomerular , Nefrectomía , Insuficiencia Renal Crónica , Humanos , Nefrectomía/efectos adversos , Nefrectomía/métodos , Masculino , Femenino , Insuficiencia Renal Crónica/complicaciones , Insuficiencia Renal Crónica/cirugía , Insuficiencia Renal Crónica/fisiopatología , Estudios Retrospectivos , Persona de Mediana Edad , Anciano , Factores de Riesgo , Neoplasias Renales/cirugía , Neoplasias Renales/complicaciones , Complicaciones Posoperatorias/etiología , Complicaciones Posoperatorias/epidemiología , Resultado del Tratamiento , Riñón/cirugía , Riñón/fisiopatología , Riñón Único/cirugía , Riñón Único/complicacionesRESUMEN
BACKGROUND: Concomitant invasive ovarian mucinous adenocarcinoma, unilateral renal agenesis and bicornuate uterus is a rare combination. Unilateral renal agenesis has been associated with genital anomalies, such as unicornuate and bicornuate uterus. Furthermore, a wealth of studies has reported the association between unicornuate uterus and ovarian anomalies, such as the absence of an ovary or ectopic ovaries, but rarely has there been a combination of the three to the best of our knowledge. The present case report is the first case presentation with a combination of the three syndromes: ovarian mucinous tumor, unilateral renal agenesis, and bicornuate uterus. CASE PRESENTATION: We report the case of a 17-year-old who presented with abdominal distension. On examination, a CT scan revealed a large multicystic abdominal mass on the right side, with an absence of the right kidney while the left kidney was normal in size, appearance, and position. Intraoperatively, massive blood-stained ascitic fluid was evacuated. Additionally, a large whitish polycystic intra-abdominal mass with mucus-like materials and solid areas was attached to the midpoint of the colon and the right ovary, with visible metastasis to the omentum. The uterus was bicornuate. The mass and omentum were taken for histopathology and a diagnosis of invasive ovarian mucinous cystadenocarcinoma with metastasis to the colon and omentum was made after a pathological report. CONCLUSIONS: The presence of these conditions in the same individual could potentially complicate medical management and fertility considerations. Thus, a need for a multidisciplinary medical team, including gynecologists, urologists, and oncologists, to address their unique needs and provide appropriate treatment and guidance. Further research and case studies are needed to better understand the possible association and implications of these rare co-occurring conditions.
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Adenocarcinoma Mucinoso , Útero Bicorne , Neoplasias Ováricas , Útero , Adolescente , Femenino , Humanos , Adenocarcinoma Mucinoso/complicaciones , Adenocarcinoma Mucinoso/diagnóstico , Adenocarcinoma Mucinoso/patología , Útero Bicorne/complicaciones , Anomalías Congénitas , Riñón/anomalías , Riñón/patología , Neoplasias Ováricas/complicaciones , Neoplasias Ováricas/patología , Riñón Único/complicaciones , Tomografía Computarizada por Rayos X , Útero/anomalías , Útero/patologíaAsunto(s)
Criocirugía , Neoplasias Renales , Sistema de Registros , Tomografía Computarizada por Rayos X , Humanos , Neoplasias Renales/cirugía , Neoplasias Renales/diagnóstico por imagen , Criocirugía/métodos , Tomografía Computarizada por Rayos X/métodos , Europa (Continente) , Riñón Único , Radiografía Intervencional/métodos , Estudios Prospectivos , Riñón/diagnóstico por imagen , Riñón/cirugía , Pruebas de Función RenalRESUMEN
BACKGROUND: Individuals with congenital solitary functioning kidney (SFK) are at an increased risk of kidney damage. According to some studies, the risk is higher in unilateral kidney agenesis (UKA) than in unilateral multicystic dysplastic kidney (UMCDK). We hypothesized that with early detection of children with UKA and UMCDK, there would be no difference in the presence of hypertension, proteinuria, and reduced glomerular filtration rate (GFR) between UKA and UMCDK. METHODS: Based on a long-term follow-up protocol, we evaluated a cohort of 160 children followed from birth for SFK (84 with UKA and 76 with UMCDK) detected by prenatal or routine neonatal ultrasound screening. Hypertension, proteinuria, and reduced GFR were monitored as markers of kidney damage. We compared the characteristics and outcomes of the subgroups of children with UKA and UMCDK. RESULTS: GFR was reduced in 42 (26.2%) children, of whom 41 showed only mild reduction. Hypertension and proteinuria were found in 22 (13.8%) and 14 (8.8%) children, respectively. Combined kidney damage was present in 57 (35.6%) children. The UMCDK and UKA subgroups differed in GFR at final examination, with UMCDK patients being significantly more likely to have normal GFR compared to UKA patients (82% vs. 67%; p = 0.039). CONCLUSIONS: One third of the children showed signs of SFK damage, albeit mild. Patients with UKA had reduced GFR significantly more often than those with UMCDK, but did not differ in the rates of hyperfiltration injury or congenital anomalies of the kidneys and urinary tract (CAKUT) in SFK.
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Diagnóstico Precoz , Tasa de Filtración Glomerular , Riñón , Riñón Displástico Multiquístico , Proteinuria , Riñón Único , Humanos , Femenino , Riñón Displástico Multiquístico/diagnóstico , Riñón Displástico Multiquístico/complicaciones , Riñón Displástico Multiquístico/fisiopatología , Masculino , Riñón Único/complicaciones , Riñón Único/diagnóstico , Riñón Único/fisiopatología , Riñón/anomalías , Riñón/fisiopatología , Riñón/diagnóstico por imagen , Recién Nacido , Pronóstico , Proteinuria/etiología , Proteinuria/diagnóstico , Lactante , Preescolar , Niño , Hipertensión/diagnóstico , Hipertensión/etiología , Hipertensión/epidemiología , Hipertensión/fisiopatología , Estudios de Seguimiento , Anomalías Congénitas/diagnóstico , Anomalías Congénitas/diagnóstico por imagen , Tamizaje Neonatal/métodos , Enfermedades Renales/congénitoRESUMEN
BACKGROUND: Accurate estimation of the glomerular filtration rate (GFR) is clinically crucial for determining the status of obstruction, developing treatment strategies, and predicting prognosis in obstructive nephropathy (ON). We aimed to develop a deep learning-based system, named UroAngel, for non-invasive and convenient prediction of single-kidney function level. METHODS: We retrospectively collected computed tomography urography (CTU) images and emission computed tomography diagnostic reports of 520 ON patients. A 3D U-Net model was used to segment the renal parenchyma, and a logistic regression multi-classification model was used to predict renal function level. We compared the predictive performance of UroAngel with the Modification of Diet in Renal Disease (MDRD), Chronic Kidney Disease Epidemiology Collaboration (CKD-EPI) equations, and two expert radiologists in an additional 40 ON patients to validate clinical effectiveness. RESULTS: UroAngel based on 3D U-Net convolutional neural network could segment the renal cortex accurately, with a Dice similarity coefficient of 0.861. Using the segmented renal cortex to predict renal function stage had high performance with an accuracy of 0.918, outperforming MDRD and CKD-EPI and two radiologists. CONCLUSIONS: We proposed an automated 3D U-Net-based analysis system for direct prediction of single-kidney function stage from CTU images. UroAngel could accurately predict single-kidney function in ON patients, providing a novel, reliable, convenient, and non-invasive method.
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Aprendizaje Profundo , Insuficiencia Renal Crónica , Riñón Único , Humanos , Estudios Retrospectivos , Riñón/diagnóstico por imagen , Insuficiencia Renal Crónica/diagnóstico , Tasa de Filtración Glomerular , Tomografía , CreatininaRESUMEN
Introduction: HerlynWernerWünderlich syndrome is a uterine malformation characterized by uterus didelphys, obstructed hemivagina and ipsilateral renal agenesis. Clinical findings: The manifestation of the disease is widely diverse; it is usually diagnosed after menarche, with dysmenorrhea and abnormal uterine bleeding; it is also associated with infertility. Main diagnosis: Four clinical cases, their diagnosis are reported here. Therapeutic interventions and results: The treatment and results of these four patients are described here. Conclusion: When studying uterine malformation it is important to consider this rare disease to avoid possible complications and giving the patient a correct diagnose and treatment. The hysteroscopy resection of the longitudinal vaginal septum in those symptomatic patients with hematocolpos should be considered as a good option for treatment.(AU)
Introducción: El síndrome de Herlyn-Werner-Wünderlich es una malformación uterina que asocia útero didelfo, hemivagina obstruida total o parcialmente y agenesia renal ipsilateral. Hallazgos clínicos: La clínica que presenta este síndrome es muy diversa; se suele diagnosticar después de la menarquia cursando con dismenorrea y sangrado uterino anómalo; así mismo se asocia a infertilidad. Diagnósticos principales: Se presentan a continuación 4 casos clínicos, su diagnóstico y tratamiento mediante diversas técnicas. Intervenciones terapéuticas y resultados: Se describen en este manuscrito los tratamientos aplicados a estas pacientes y sus resultados. Conclusión: Ante el hallazgo de una malformación uterina es importante tener en cuenta esta entidad infrecuente, para evitar posibles complicaciones y proporcionar a la paciente un diagnóstico y tratamiento correctos. La resección histeroscópica del tabique vaginal longitudinal en aquellas pacientes sintomáticas con hematocolpos debe ser considerada como una buena opción de tratamiento.(AU)
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Humanos , Femenino , Adulto Joven , Adulto , Útero/anomalías , Enfermedades de los Genitales Femeninos , Dismenorrea , Riñón Único , Pielonefritis , Ginecología , Obstetricia , Pacientes Internos , Examen FísicoRESUMEN
INTRODUCTION: Percutaneous nephrolithotomy (PCNL) is considered the gold standard treatment for kidney stones greater than 20 mm. However, retrograde intrarenal surgery (RIRS) may achieve the same stone-free rate with repeated procedures, and potentially fewer complications. This study aimed to compare the efficacy and safety of PCNL and two-staged RIRS. EVIDENCE ACQUISITION: We conducted a systematic search in PubMed, Embase, Scopus, Cochrane, and Web of Science for studies comparing PCNL and RIRS for kidney stones greater than 20mm. The primary outcome is stone-free rate (SFR) of PCNL and RIRS (repeated once if needed). Secondary outcomes were SFR of PCNL versus RIRS (single procedure), operative time, hospital stay, need for auxiliary procedures, and complications. We performed a subgroup analysis for randomized trials, non-randomized trials, and patients with solitary kidney. We performed a trial sequential analysis for the main outcome. EVIDENCE SYNTHESIS: We included 31 articles, with 1987 patients in the PCNL and 1724 patients in RIRS. We confirmed the traditional result that after a single procedure PCNL has a higher SFR. We also found that comparing the SFR of PCNL and RIRS, repeated up to two times if needed, no difference in SFR was observed. Surprisingly, only 26% (CI95 23%-28%) of the patients required a second RIRS. In the trial sequential analysis, the last point of the z-curve was within futility borders. We observed that PCNL has a higher incidence of complications (RR=1.51; CI95 1.24, 1.83; P<0.0001; I2=28%), specifically CD2 (RR=1.82; CI95 1.30, 2.54; P=0.0004; I2=26%) and longer hospital stay (MD 2.57; 2.18, 2.96; P<0.00001; I2-98%). No difference was observed regarding operative time. CONCLUSIONS: RIRS repeated up to two times is equivalent to PCNL in terms of the SFR and may have the same safety.
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Cálculos Renales , Litotricia , Nefrolitotomía Percutánea , Nefrostomía Percutánea , Riñón Único , Humanos , Nefrolitotomía Percutánea/efectos adversos , Nefrolitotomía Percutánea/métodos , Nefrostomía Percutánea/métodos , Cálculos Renales/cirugía , Riñón Único/terapiaAsunto(s)
Nefrolitotomía Percutánea , Complicaciones Posoperatorias , Riñón Único , Humanos , Nefrolitotomía Percutánea/efectos adversos , Nefrolitotomía Percutánea/métodos , Complicaciones Posoperatorias/etiología , Riñón Único/complicaciones , Masculino , Cálculos Renales/cirugía , Femenino , Persona de Mediana EdadRESUMEN
Primary vesicoureteral reflux (VUR) is the prevailing congenital anomaly of the kidneys and urinary tract, posing a significant risk for pyelonephritis scarring and chronic renal insufficiency in pediatric patients. Nevertheless, the precise genetic etiology of VUR remains enigmatic. In this current investigation, we conducted whole-exome sequencing on a child exhibiting single kidney, devoid of any familial VUR background, along with both biological parents. Two missense variants (NM_019105.8: exon11: c.4111G>A and NM_019105.8: exon2: c.31A>T) in the TNXB gene were identified through whole-exome sequencing of the child. These variants were found to be inherited from the child's parents, with each parent carrying one of the variants. Molecular dynamics simulations were conducted to assess the impact of these variants on the tenascin XB proteins encoded by them, revealing varying degrees of impairment. Based on our findings, it is suggested that the TNXB compound heterozygous variant, consisting of c.4111G>A and c.31A>T, may be the underlying cause of right renal agenesis and left hydronephrosis in afflicted child. This discovery broadens the genetic range of the TNXB gene and establishes a genetic foundation for disease-specific preimplantation genetic diagnosis (PGD) in prospective pregnancies involving the parents of this afflicted child.
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Riñón/anomalías , Riñón Único , Anomalías Urogenitales , Reflujo Vesicoureteral , Humanos , Niño , Reflujo Vesicoureteral/complicaciones , Reflujo Vesicoureteral/genética , Reflujo Vesicoureteral/diagnóstico , Estudios ProspectivosRESUMEN
BACKGROUND: As a result of the failure of embryogenic kidney formation, a condition can occur where not a single kidney appears and this phenomenon is known as unilateral renal agenesis (URA). Both aplastic and dysplastic kidney are different from renal agenesis, atrophy and renal hypoplasia. However, from this case report it can be seen that there are similarities, both radiologically and macroscopically, between cases of unilateral renal aplasia and renal agenesis. CASE PRESENTATION: A 2 year old Javanese boy came to the health facility with complaints of recurrent fever and urinary tract symptoms such as dysuria and straining. Computerized Tomography (CT) scan of the abdomen and urography showed agenesis of the left kidney and a probable spina bifida. Cystourethrography examination was done and showed grade 5 voiding, then retrograde pyelography was performed with the diagnosis of unilateral renal agenesis was made because there was no visible left side collecting system even though there was a duplication in the left ureter. The next examination was carried out by histopathology and immunohistochemistry after resection of the left side of the ureter and the diagnosis increasingly pointed towards renal aplasia after primitive renal structures were found. CONCLUSIONS: Renal agenesis and aplastic kidney are difficult to differentiate macroscopically and radiologically. Nevertheless, from this case report, we try to provide some interesting points to differentiate cases of unilateral renal agenesis from Renal Dysplasia which presents as unilateral renal aplasia.
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Anomalías Congénitas , Criptorquidismo , Enfermedades Renales/congénito , Túbulos Renales Proximales/anomalías , Riñón Único , Disrafia Espinal , Anomalías Urogenitales , Masculino , Niño , Humanos , Preescolar , Riñón Único/complicaciones , Riñón Único/diagnóstico por imagen , Riñón Único/patología , Riñón/patología , Disrafia Espinal/complicaciones , Disrafia Espinal/diagnóstico por imagen , Disrafia Espinal/patologíaRESUMEN
PURPOSE: Treatment of renal cell carcinoma (RCC) in patients with solitary kidneys remains challenging. The purpose of this multicentre cohort study was to explore how renal function is affected by percutaneous image-guided cryoablation in patients with solitary kidneys. MATERIAL AND METHODS: Data from the European Registry for Renal Cryoablation database were extracted on patients with RCC in solitary kidneys treated with image-guided, percutaneous cryoablation. Patients were excluded if they had multiple tumours, had received previous treatment of the tumour, or were treated with more than one cryoablation procedure. Pre- and post-treatment eGFR (within 3 months of the procedure) were compared. RESULTS: Of 222 patients with solitary kidneys entered into the database, a total of 70 patients met inclusion criteria. The mean baseline eGFR was 55.8 ± 16.8 mL/min/1.73 m2, and the mean 3-month post-operative eGFR was 49.6 ± 16.5 mL/min/1.73 m2. Mean eGFR reduction was - 6.2 mL/min/1.73 m2 corresponding to 11.1% (p = 0.01). No patients changed chronic kidney disease group to severe or end-stage chronic kidney disease (stage IV or V). No patients required post-procedure dialysis. CONCLUSION: Image-guided renal cryoablation appears to be safe and effective for renal function preservation in patients with RCC in a solitary kidney. Following cryoablation, all patients had preservation of renal function without the need for dialysis or progression in chronic kidney disease stage despite the statistically significant reduction in eGFR. LEVEL OF EVIDENCE 3: Observational study.
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Carcinoma de Células Renales , Criocirugía , Tasa de Filtración Glomerular , Neoplasias Renales , Sistema de Registros , Tomografía Computarizada por Rayos X , Humanos , Criocirugía/métodos , Neoplasias Renales/cirugía , Neoplasias Renales/diagnóstico por imagen , Masculino , Femenino , Anciano , Europa (Continente) , Carcinoma de Células Renales/cirugía , Carcinoma de Células Renales/diagnóstico por imagen , Estudios Prospectivos , Persona de Mediana Edad , Tomografía Computarizada por Rayos X/métodos , Riñón Único/cirugía , Riñón Único/complicaciones , Radiografía Intervencional/métodos , Resultado del Tratamiento , Riñón/cirugía , Riñón/diagnóstico por imagen , Riñón/anomalías , Cirugía Asistida por Computador/métodosRESUMEN
We present the case of a late 60s male who presented to hospital 3 years postradical cystectomy and ileal conduit diversion with polyuria and acute kidney injury. CT of the kidneys, ureters and bladder (KUB) revealed mild hydronephrosis of a solitary left kidney and a 3-cm calculus in the ileal conduit. The patient subsequently underwent a laparotomy which revealed the cause of obstruction to be tethering of the small bowel anastomosis to the pubic bone. The conduit was excised with the calculus in situ and a new conduit was fashioned. The patient recovered from surgery without complication, and his kidney function improved.
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Cálculos , Obstrucción Intestinal , Riñón Único , Derivación Urinaria , Humanos , Masculino , Hueso Púbico , Derivación Urinaria/efectos adversos , Anastomosis Quirúrgica/efectos adversos , Riñón , Obstrucción Intestinal/diagnóstico por imagen , Obstrucción Intestinal/etiología , Obstrucción Intestinal/cirugíaRESUMEN
BACKGROUND: The prevalence of Müllerian anomalies (MA) among patients with congenital solitary functioning kidney (SFK) is not well defined. A delay in diagnosis of obstructive MA can increase the risk of poor clinical outcomes. This study describes the prevalence of MA in patients with congenital SFK. METHODS: A retrospective review was performed of patients within the Nationwide Children's Hospital system with ICD9 or ICD10 diagnostic codes for congenital SFK defined as either unilateral renal agenesis (URA) or multicystic dysplastic kidney (MCDK) and confirmed by chart review. Patients with complex urogenital pathology were excluded. Renal anomaly, MA, reason for and type of pelvic evaluation, and age of diagnosis of anomalies were evaluated. RESULTS: Congenital SFK occurred in 431 girls due to URA (209) or MCDK (222). Pelvic evaluation, most commonly by ultrasound for evaluation of abdominal pain or dysmenorrhea, occurred in 115 patients leading to MA diagnosis in 60 instances. Among 221 patients ages 10 years and older, 104 underwent pelvic evaluation and 52 were diagnosed with an MA of which 20 were obstructive. Isolated uterine or combined uterine and vaginal anomalies were the most common MA. MA were five-fold more common in patients with URA compared to MCDK. In 75% of patients, the SFK was diagnosed prior to the MA. CONCLUSIONS: The prevalence of MA in patients with congenital SFK was 24% among those age 10 years or older, and 38% were obstructive. This justifies routine screening pelvic ultrasound in girls with congenital SFK to improve early diagnosis.
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Enfermedades Renales , Riñón Displástico Multiquístico , Riñón Único , Sistema Urinario , Niño , Femenino , Humanos , Riñón Único/epidemiología , Riñón/anomalías , Enfermedades Renales/diagnóstico , Estudios RetrospectivosRESUMEN
Little is known about the effect tubulointerstitial nephropathies have in modulating maternal-fetal outcomes in pregnancy. Therefore, we analyzed the main outcomes of pregnancy in these women to gain a better understanding of the role of a reduction in maternal kidney mass. From the Torino Cagliari Observational Study (TOCOS) cohort, we selected 529 patients with a diagnosis of tubulointerstitial disease and focused on 421 patients with chronic kidney disease (CKD) stage 1, without hypertension but with proteinuria less than 0.5 g/day at referral. From a cohort of 2969 singleton deliveries from low-risk pregnancies followed in the same settings we selected a propensity score matched control cohort of 842 pregnancies match 2:1 for age, parity, body mass index, ethnicity, and origin. Time to delivery was significantly shorter in the study cohort 38.0 (Quartile 1-Quartile 3: 37.0-39.0) versus 39.0 (Q1-Q3 38.0-40.0) weeks, with respect to controls. Incidence of delivery of less than 37 gestational weeks significantly increased from controls (7.4%) to women with previous acute pyelonephritis (10.8%), other tubulointerstitial diseases (9.7%) and was the highest in patients with a single kidney (31.1%). Similarly, neonatal birthweight significantly and progressively decreased from controls (3260 g [Q1-Q3: 2980-3530]), previous acute pyelonephritis (3090 g [Q1-Q3: 2868-3405], other tubulointerstitial diseases (3110 g [Q1-Q3: 2840-3417]), and to solitary kidney (2910 g [Q1-Q3: 2480-3240]). Risk of developing preeclampsia was significantly higher in the CKD cohort (3.6% vs 1.7% in low-risk controls). Thus, even a small reduction in functional kidney mass, such as a pyelonephritic scar, is associated with a shorter duration of pregnancy and an increased risk of preterm delivery. The risk is proportional to the extent of parenchymal reduction and is highest in cases with a solitary kidney.
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Pielonefritis , Insuficiencia Renal Crónica , Riñón Único , Embarazo , Recién Nacido , Humanos , Femenino , Resultado del Embarazo/epidemiología , Riñón Único/complicaciones , Insuficiencia Renal Crónica/diagnóstico , Insuficiencia Renal Crónica/epidemiología , Insuficiencia Renal Crónica/complicaciones , RiñónRESUMEN
BACKGROUND: The nonuse rate for kidneys recovered from deceased donors is increasing, rising to 27% in 2023. In 10% of these cases, 1 kidney is transplanted but the mate kidney is not. STUDY DESIGN: We conducted a retrospective, single-center cohort study from December 2001 to May 2023 comparing single kidneys transplanted at our center (where the contralateral kidney was not used) to kidneys where both were transplanted separately, at least 1 of which was at our center. RESULTS: We performed 395 single deceased-donor kidney transplants in which the mate kidney was not transplanted. Primary reasons for mate kidney nonuse were as follows: no recipient located or list exhausted (33.4%), kidney trauma or injury or anatomic abnormalities (18.7%), biopsy findings (16.7%), and poor renal function (13.7%). Mean donor and recipient ages were 51.5 ± 14.2 and 60 ± 12.6 years, respectively. Mean kidney donor profile index was 73% ± 22%, and 104 donors (26.3%) had kidney donor profile index >85%. Mean cold ischemia was 25.6 ± 7.4 hours, and 280 kidneys (70.7%) were imported. Compared with 2,303 concurrent control transplants performed at our center, primary nonfunction or thrombosis (5.1% single vs 2.8% control) and delayed graft function (35.4% single vs 30.1% control) were greater with single-kidney use (both p < 0.05). Median patient and death-censored graft survival were shorter in the single group (11.6 vs 13.5 years, p = 0.03 and 11.6 vs 19 years, p = 0.003), although the former was at least double median survival on the waiting list. In patients with functioning grafts in the single-kidney group, 1-year mean serum creatinine was 1.77 ± 0.8 mg/dL and estimated glomerular filtration rate was 44.8 ± 20 mL/min/1.73 m 2 . CONCLUSIONS: These findings suggest that many mate kidneys are being inappropriately rejected, given the acceptable outcomes that can be achieved by transplanting the single kidney in appropriately selected recipients.
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Trasplante de Riñón , Riñón Único , Humanos , Estudios de Cohortes , Estudios Retrospectivos , Riñón/cirugía , Donantes de Tejidos , Supervivencia de Injerto , Resultado del TratamientoRESUMEN
BACKGROUND: Congenital solitary functioning kidney (CSFK) is an anomaly predisposing to hypertension, albuminuria and chronic kidney disease. Its aetiology is complex and includes genetic and environmental factors. The role of gene-environment interactions (G×E), although relevant for other congenital anomalies, has not yet been investigated. Therefore, we performed a genome-wide G×E analysis with six preselected environmental factors to explore the role of these interactions in the aetiology of CSFK. METHODS: In the AGORA (Aetiologic research into Genetic and Occupational/environmental Risk factors for Anomalies in children) data- and biobank, genome-wide single-nucleotide variant (SNV) data and questionnaire data on prenatal exposure to environmental risk factors were available for 381 CSFK patients and 598 healthy controls. Using a two-step strategy, we first selected independent significant SNVs associated with one of the six environmental risk factors. These SNVs were subsequently tested in G×E analyses using logistic regression models, with Bonferroni-corrected P-value thresholds based on the number of SNVs selected in step one. RESULTS: In step one, 7-40 SNVs were selected per environmental factor, of which only rs3098698 reached statistical significance (P = .0016, Bonferroni-corrected threshold 0.0045) for interaction in step two. The interaction between maternal overweight and this SNV, which results in lower expression of the Arylsulfatase B (ARSB) gene, could be explained by lower insulin receptor activity in children heterozygous for rs3098698. Eight other G×E interactions had a P-value <.05, of which two were biologically plausible and warrant further study. CONCLUSIONS: Interactions between genetic and environmental factors may contribute to the aetiology of CSFK. To better determine their role, large studies combining data on genetic and environmental risk factors are warranted.